The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

By Berry Fred B.  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2619-2627

Oxford University Press

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Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase ( GCDH )

By Keyser Britta   Mhlhausen Chris   Dickmanns Achim   Christensen Ernst   Muschol Nicole   Ullrich Kurt   Braulke Thomas  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3854-3863

Oxford University Press

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Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein

By Sabbagh Y.  

Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1539-1546

Oxford University Press

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Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

By Beysen Diane   Moumn Lara   Veitia Reiner   Peters Hartmut   Leroy Bart P.   De Paepe Anne   De Baere Elfride  

Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 2030-2038

Oxford University Press

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Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations

By Masabanda J.   Griffin D.   Warren M.   Smith A.   Partridge N.   Ashworth A.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 841-851

Oxford University Press

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